Interpreting Results from FUMA - r2 values

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Avni Kaur

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Feb 21, 2022, 11:36:24 AM2/21/22
to FUMA GWAS users
Apologies for the confusion but I am little unsure what to make of my results  

From what I know, the Independent significant SNPs are independent from each other
at r2 < 0.6 and lead SNPs are  independent significant SNPs that are in LD with each other at r2 < 0.1

When I look into the ID.txt file to identify the r2 value of my independent sig SNPs which are the same as the lead SNPs. The values for the r2 value aren't <0.6 or < 0.1 E.g. For one my SNPs the r2 value is 0.678698. For another one I have a r2 value of 1. So I am little confused as to how FUMA identified the independent sig SNPs or lead SNPs?

Kind Regards,

Avni Kaur 

d.p.wi...@vu.nl

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Feb 22, 2022, 7:22:02 AM2/22/22
to FUMA GWAS users
Hi, 

Do you mean in ld.txt? Can you share an example?

The lead SNPs are defined by clumping ind sig SNPs at r2 0.1, so all ind sig SNPs have r2<0.6 from each other, and lead SNPs have r2<0.1 from each other.

Cheers,
Doug

Avni Kaur

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Mar 16, 2022, 9:58:54 AM3/16/22
to FUMA GWAS users
Hi Doug,

Thanks for getting back to me. Apologies for the late reply.

Yes this is in id.txt as well as the r2 column in SNPs.txt

I thought the r2 values should be low rather than high.  All the values in this column  are above 0.6/0.7
I also notice the r2 values = 1 are the lead SNPs/significant lead SNPs.

Kind Regards,

Avni
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